A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis.

doi:10.1073/pnas.0914206107

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Article

A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis.

Proceedings of the National Academy of Sciences of the United States of America - 17 Aug 2010

Abitbol Marie, Thibaud Jean-Laurent, Olby Natasha J, Hitte Christophe, Puech Jean-Philippe, Maurer Marie, Pilot-Storck Fanny, Hédan Benoit, Dréano Stéphane, Brahimi Sandra, Delattre Delphine, André Catherine, Gray Françoise, Delisle Françoise, Caillaud Catherine, Bernex Florence, Panthier Jean-Jacques, Aubin-Houzelstein Geneviève, Blot Stéphane, Tiret Laurent

Abstract excerpt

Neuronal ceroid lipofuscinoses (NCLs) represent the most common group of inherited progressive encephalopathies in children. They are characterized by progressive loss of vision, mental and motor deterioration, epileptic seizures, and premature death. Rare adult forms of NCL with late onset are known as Kufs' disease. Loci underlying these adult forms remain unknown due to the small number of patients and genetic...

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PMID: 20679209
DOI: 10.1073/pnas.0914206107
PMCID: PMC2930459

Genes

NCL
ARSG

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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